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Review Article
Endocrinology
Applications of genomic research in pediatric endocrine diseases
Ja Hye Kim, Jin-Ho Choi
Clin Exp Pediatr. 2023;66(12):520-530.   Published online June 14, 2023
· Recent advances in molecular genetics have improved our understanding of pediatric endocrine disorders and are now used in mainstream medical practice.
· Genome-wide association studies can increase our understanding of the biological mechanisms of disease and inform new therapeutic options.
· The identification of founder mutations leads to the efficient localization of the genes underlying Mendelian disorders.
· Next-generation sequencing technologies benefit clinical practice and research of pediatric endocrinology.
Guideline
Endocrinology
2017 Clinical practice guidelines for dyslipidemia of Korean children and adolescents
Jung Sub Lim, Eun Young Kim, Jae Hyun Kim, Jae-Ho Yoo, Kyung Hee Yi, Hyun Wook Chae, Jin-Ho Choi, Ji Young Kim, Il Tae Hwang; the Committee of Dyslipidemia of Korean Children and Adolescents on behalf of Korean Society of Pediatric Endocrinology (KSPE)
Clin Exp Pediatr. 2020;63(12):454-462.   Published online November 25, 2020
Question: How are children and adolescents with dyslipidemia treated and managed in Korea?
Finding: 2017 guidelines recommend to measure nonfasting non-HDL-C as a screening test and introduce new diet methods: Cardiovascular Health Integrated Lifestyle Diet (CHILD)-1, CHILD-2-low-density lipoprotein cholesterol, and CHILD-2-triglyceride. Statin is the only drug approved in children older than 10 years.
Meaning: New clinical practice guidelines for treating and managing dyslipidemia of Korean children and adolescents are provided.
Review Article
Endocrinology
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care
Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2017;60(2):31-37.   Published online February 27, 2017

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from...

Case Report
Endocrinology
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.   Published online November 30, 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with...

Original Article
Genetics and Metabolism
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(1):16-23.   Published online January 22, 2016
Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2014;57(3):140-148.   Published online March 31, 2014
Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

Case Report
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(8):351-354.   Published online August 27, 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

Original Article
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2012;55(2):48-53.   Published online February 14, 2012
Purpose

Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.

Methods

Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.

Results

Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type,...

The natural history and prognostic factors of Graves' disease in Korean children and adolescents
Seung Min Song, Ji-Seok Youn, Jung Min Ko, Chong Kun Cheon, Jin-Ho Choi, Han Wook Yoo
Clin Exp Pediatr. 2010;53(4):585-591.   Published online April 15, 2010
Purpose : Graves' disease is the most common cause of hyperthyroidism in children and adolescents. In this study, we investigated the natural course and the prognostic factors of Graves' disease in Korean children and adolescents. Methods : One-hundred thirteen (88 girls and 25 boys) patients were included in this study. A retrospective analysis was made of all patients who were diagnosed...
Case Report
Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2010;53(3):432-436.   Published online March 15, 2010
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old...
Original Article
Endocrine dysfunction after bone marrow transplantation during childhood and adolescence
Hye Young Jin, Jin-Ho Choi, Ho-Joon Im, Jong-Jin Seo, Hyung-Nam Moon, Han-Wook Yoo
Clin Exp Pediatr. 2010;53(3):420-427.   Published online March 15, 2010
Purpose : Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. Methods : One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis,...
Case Report
Hepatic glycogenosis in a patient with poorly controlled type 1 diabetes mellitus
Hye Young Jin, Dae-Young Kang, Jin-Ho Choi
Clin Exp Pediatr. 2009;52(11):1279-1282.   Published online November 15, 2009
Hepatomegaly and liver dysfunction might develop in patients with diabetes mellitus due to glycogen deposition or nonalcoholic steatohepatitis. We experienced a case of hepatic glycogenosis in a patient with type 1 diabetes mellitus who presented with recurrent hypoglycemia, suggesting impairment of glycogenolysis and gluconeogenesis. A 10-year-old girl with a 4-year history of type 1 diabetes mellitus was admitted because of...
A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
Hyun-Seung Jin, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2004;47(12):1360-1363.   Published online December 15, 2004
Tay-Sachs disease is an autosomal recessive, neurodegenerative disorder that results from excessive storage of the cell membrane glycolipid, and GM2 ganglioside within the lysosomes of cells. This disease is caused by deficiency of the isoenzyme β-hexosaminidase A, produced in the endoplasmic reticulum. Patients with Tay-Sachs disease are characterized by normal motor development in the first few months of life, followed...
Three Cases of Hypercalcemia Due to Vitamin D Intoxication in Infancy
Jin-Ho Choi, Mi-Sun Yum, Hyewon Hahn, Young Seo Park
Clin Exp Pediatr. 2004;47(3):332-337.   Published online March 15, 2004
Hypercalcemia in infancy is an uncommon disorder but has a potential of serious sequelae. Therefore, infants with hypercalcemia must be promptly investigated and need urgent management. We report three cases of infantile hypercalcemia caused by vitamin D intoxication, emphasizing diagnostic investigations and the course of treatment. The first and the second cases were thought to be vitamin D intoxication without...
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